COL9A1, collagen type IX alpha 1 chain, 1297

N. diseases: 116; N. variants: 24
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912931
rs121912931 		0.882 0.280 6 70281033 stop gained G/A snv
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.010 1.000 1 2006 2006
dbSNP: rs779666896
rs779666896 		0.925 0.280 6 70274076 missense variant G/A;T snv 4.1E-06; 2.5E-05
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs779666896
rs779666896 		0.925 0.280 6 70274076 missense variant G/A;T snv 4.1E-06; 2.5E-05
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121912931
rs121912931 		0.882 0.280 6 70281033 stop gained G/A snv
CUI: C3279941
Disease: STICKLER SYNDROME, TYPE IV
STICKLER SYNDROME, TYPE IV 		0.700 0